(Q36863142)

16 August 2017

Efficacy of anti-IL-1 treatment in Majeed syndrome (English)

1 reference

16 August 2017

1 reference

5

Henrik Hasle

1 reference

16 August 2017

Troels Herlin

1

1 reference

16 August 2017

Bente Fiirgaard

2

1 reference

16 August 2017

Mette Bjerre

3

1 reference

16 August 2017

Gitte Kerndrup

4

1 reference

16 August 2017

Xinyu Bing

6

1 reference

16 August 2017

Polly J Ferguson

7

1 reference

16 August 2017

language of work or name

English

0 references

publication date

20 October 2012

1 reference

Annals of the Rheumatic Diseases

16 August 2017

1 reference

16 August 2017

72

1 reference

16 August 2017

3

1 reference

16 August 2017

410-413

1 reference

Clinical care of children with sterile bone inflammation

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

A clinical perspective of IL-1β as the gatekeeper of inflammation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

A map of human genome variation from population-scale sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

An autoinflammatory disease due to homozygous deletion of the IL1RN locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

The lipin family: mutations and metabolism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

Autoinflammatory bone disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

Biologic therapy in refractory chronic non-bacterial osteomyelitis of childhood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3660147

Adult-onset Still's disease and chronic recurrent multifocal osteomyelitis: a hitherto undescribed manifestation of autoinflammation

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23087183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ANNRHEUMDIS-2012-201818

1 reference

release_7cq7ltiezjbwlgg6j3afxgmium

16 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7cq7ltiezjbwlgg6j3afxgmium

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

16 August 2017

1 reference